ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1236C>T (p.Val412=)

gnomAD frequency: 0.00001  dbSNP: rs369576099
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163670 SCV000214242 likely benign Hereditary cancer-predisposing syndrome 2017-08-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001704174 SCV000521625 likely benign not provided 2019-04-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163670 SCV000684731 likely benign Hereditary cancer-predisposing syndrome 2016-02-24 criteria provided, single submitter clinical testing
Invitae RCV000943642 SCV001089595 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001147917 SCV001308770 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
All of Us Research Program, National Institutes of Health RCV003995269 SCV004840981 likely benign Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing

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